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Natural History Study of Synucleinopathies

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MSA Online Survey: Take the survey and share your experience

It is important to know the impact of an illness on the lives of people it affects. Patient surveys are an important way to better understand from patients themselves what matters the most. This powerful approach is even more important when it comes to population sampling in rare diseases when patients are located across different cities, states, and countries.

Multiple system atrophy (MSA) is a rare ultra-aggressive form of Parkinsonism that has no cure. The Center is part of the Autonomic Disorders Consortium – funded by the National Institutes of Health (NIH) to focus on rare diseases, like MSA. When researchers at the NYU Dysautonomia Center joined forces with MSA Coalition – the largest patient advocacy group for MSA – they knew that they needed an MSA patient survey to know about the impact of MSA on a patient’s health.

They drew up a short list of questions that honed…

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Two New Studies Open for Patients with MSA

Source: dysautonomiacenter.com

norepinephrine-680x350 Norepinephrine is a neurotransmitter released by the body and essential for maintaining blood pressure

Orthostatic hypotension (OH) can cause dizziness, lightheadedness, and even angina on standing. It occurs when the autonomic reflexes that control blood pressure are impaired. OH is common and often an early sign of multiple system atrophy.

Norepinephrine is released by the autonomic nervous system and is the main neurotransmitter that prevents blood pressure from falling to low levels when upright. Around 50% of patients with MSA fail to release norepinephrine on standing, causing their blood pressure to fall to very low levels.

shutterstock103520690 Both new trials will look at the effects of enhancing norepinephrine levels outside that brain as a way to improve symptoms of low blood pressure standing.

The NYU Dysautonomia Center has 2 new clinical trials to test new drugs that are being developed for the treatment of OH in patients with MSA. Both compounds…

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What it means to study rare diseases

Working on rare diseases like MSA gives you a unique perspective into how progress in research can translate into better clinical care for patients.

An orphan disease is disease that affects less than 200,000 Americans.  Orphan diseases (also called rare diseases) are surprisingly common and there are an estimated 7,000 different orphan diseases affecting around 30 million Americans. But why study them?

The advantage of working on rare diseases is that there are often a lot of unknowns. For a scientist this means that there is a lot still to be discovered. Unlike heart disease, cancer or diabetes there are fewer people working on a single orphan disease. This means that you can really advance knowledge and make a contribution.

Patients with rare diseases teach you a lot. Working with different rare diseases gives you a unique perspective and an invaluable data set. Carefully observing patients in the lab teaches you how catastrophic mutations affect the development of nerves in children and  how neurodegenerative processes destroy the nerves as we age.

Whenever you do an experiment with a patient…

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Inspiring the next generation of physician scientists to take on autonomic disorders

Inspiring young clinical researchers to train in recognizing and treating MSA is part of the mission of the Autonomic Disorders Consortium. Trainees working on the natural history study learn the clinical skills to help patients with MSA on their journey to receiving specialist medical care.

As the field of autonomic disorders grows as a subspeciality in neuroscience, it catches the attention of motivated young neurologists keen to learn more. The Center at NYU runs a clinical observership program, inviting the brightest trainee physicians to come and see the laboratory in action and learn about the patients we treat.

Introducing young investigators to autonomic neurology is a vital way to inspire a new generation of physician scientists that will lead to field in the future

Over the last 9-years, under the Direction of Dr. Horacio Kaufmann, the autonomic observership initiative at NYU has grown. Each member of staff at the Center mentors the observers to teach them how to test autonomic reflexes and carry out clinical research. Many of the trainees from Europe, Asia and the Middle East that came to NYU’s Dysautonomia Center were inspired to set up their own up autonomic laboratories when they returned to their countries.

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The Center awarded NIH funding to continue the Consortium Project

The Autonomic Disorders Consortium is a joint project supported by the NIH and MSA Coalition that brings together clinical teams around the world to focus on MSA and other rare autonomic diseases


The National Institutes of Health (NIH) began an initiative to create collaborative consortia to bring together investigators working on rare (orphan) diseases. In 2009 five academic medical centers in the United States joined to create the Autonomic Disorders Consortium (ADC). NYU’s Dysautonomia Center is the site leading the natural historystudy. The project documents the clinical features of patients with rare autonomic diseases overtime. Amidst increasing competition, NIH has renewed funding for the Consortium. The grant award to was for four years.

Why study the natural history of a disease?

Large and well thought out natural history studies provide the groundwork necessary for planning clinical trials to test new treatments. They help us decide what endpoints to measure in a trial and how they should be measured. They provide the means to understand how much patients vary from one another and allow us to reliably estimate the number of patients needed for a…

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The eye in MSA: A window into disease progression?

Visual symptoms are often overlooked in patients with MSA. Measuring changes in the retina may prove useful for monitoring the disease progression in clinical trials.


The retina is the light-sensitive layer of tissue at the back of the inner eye that is considered part of the brain. It contains photoreceptor cells, which convert images into electrical signals and transport this information to the visual cortex through the optic nerve. Because the retina is densely innervated by nerve cells, it’s not at all surprising that it can be affected in many neurological diseases leading to vision problems.

The Dysautonomia Center team just published a new study describing the retina in multiple system atrophy (MSA) – a degenerative disease closely related with Parkinson disease. The team measured the retinal structure using optical coherence tomography (or OCT for short). The technique is safe, fast, entire non-invasive and scans the eye within minutes. It has better resolution than a standard magnetic resonance imaging (MRI). Despite the fact that patients with MSA don’t complain of visual problems, the study showed that…

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Dr. Palma wins MSA research award

Travel fellowship awards offered by the MSA Coalition give young researchers an opportunity to share their work at scientific congresses around the world.

The diagnosis of multiple system atrophy (MSA) is often very difficult. As there is no reliable clinical test, clinicians are many times hesitant to make the diagnosis and wait to see how rapidly the symptoms progress. This can prevent patients from receiving treatment, especially in the early stages of the disease.

The MSA Coalition is a patient support group dedicated to raising awareness and providing education on MSA. At the heart of the Coalition’s mission is grants program, stimulating research into this rare fatal neurodegenerative disease.

Each year the American Autonomic Society selects the best research in MSA and the Coalition supports travel fellowship awards allowing investigators to present their work at the annual scientific meeting. In recent years, competition for the MSA Travel Fellowship awards has become more intense, and past winners include leaders in the field. Priority is given to work that has an impact on patient’s lives.

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An update from the 5th Congress on MSA

All the news from the 5th International Meeting on Multiple System Atrophy, Salerno 2016.

At the 2016 International Congress on MSA, over 130 experts in the field came together for a 2-day intensive meeting in Salerno, Southern Italy. The congress faculty covered MSA from all angles with each speaker describing how advances in MSA research are shaping the way we now approach this degenerative brain disease. The scientific program took us from the bench to the bedside. It provided an update into why the brain cells die and how we might protect them to stop the progressive movement and balance impairment, together with loss of bladder and blood pressure control.

Pathogenesis

Culture_of_rat_brain_cells_stained_with_antibody_to_MAP2_green_Neurofilament_red_and_DNA_blue.jpgThe recent discovery that MSA maybe a prion disease, caused by the spread of the mis-folded rogue protein alpha-synuclein (read more here) has sparked a flurry of interest in the underlying cause of the disease. The Congress opened with a session dedicated to the pathogenesis of MSA. Dr. Janice Holton discussed the…

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MSA NJ organizing a fund-raiser picnic for families in the tristate area

MSA NJ offers support to families living with MSA in the tristate area.


Dear Friends,

Multiple System Atrophy New Jersey (MSA NJ) is a non-profit organization, which provides support for patients with MSA, as well as their families and caregivers, in the tri-state area.

On Saturday September 17th (12 – 5 PM) MSA NJ will be hosting their annual afternoon fund-raiser picnic. The event is held in honor of Dolores Roemer’s Birthday, lost to MSA.

MSA is a major illness, and you don’t have to go it alone. This event is an opportunity to meet other families living with MSA, share stories and make connections. Come and enjoy an afternoon of friendship and support, with a BBQ, music and family entertainment (boating, soccer, swimming, mini-golf and more). There will be special activities for patients as well, such as Dance Therapy.

The MSA NJ picnic will take place at Liberty Lake, Bordentown, New Jersey (directions: here). The location is…

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